Figure 1. Midwest family affected with X-linked ocular albinism

A: The pedigree of the midwest family. The arrow points to the male proband analyzed. Asterisks mark subjects from whom samples were collected. The bar above two of the symbols indicates the subjects were examined. Filled black symbols, denote affected males, and target round symbols indicate obligate or molecularly verified carriers. Question marks inside circles identify females whose status is unknown. Images B-E are representative findings in IV:18 (31-year-old female carrier). B: A fundus image of an area of diffuse, characteristic "mud-splattered" coarse retinal pigment epithelium (RPE) mottling in the nasal periphery of the right eye; C: A fundus image of the superior mid-periphery area highlighting a patch of marked depigmentation; D: A fundus image showing streaks of coarse, dark RPE mottling observed in the temporal periphery of the right eye. E: A fundus image of an area of depigmentation surrounded by "mud-splattered" coarse RPE mottling evident in the inferior mid-periphery of the left eye. F: Sequence analysis of the proband (III:16) revealing the 250del in exon 1 (arrow). G: Sequence analysis for OA1 of IV:18 proband showing heterozygosity at this locus (arrow).